Association of phosphatase and tensin homolog gene polymorphisms with the efficacy and extrapyramidal symptoms of risperidone treatment in patients with schizophrenia
GAO Kerun1,2, YU Shunying2, LI Huafang2
1. Department of Psychiatry, Affiliated Mental Health Center, Zhejiang University School of Medicine (Hangzhou Seventh People's Hospital), Hangzhou, Zhejiang 310013, China; 2. Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China
Abstract：Objective To investigate the association between phosphatase and tensin homolog (PTEN) gene polymorphisms with the efficacy of risperidone and extrapyramidal symptoms (EPS) in patients with schizophrenia, so as to provide insights into pharmacogenomic studies and individualized treatment of schizophrenia. Methods The patients with schizophrenia in Shanghai Mental Health Center from 2019 to 2021 were selected using the consecutive enrollment method. Risperidone (4-8 mg/d) was used to treat for 8 weeks. The symptoms were investigated using the Positive and Negative Symptom Scale (PANSS), the treatment efficacy was evaluated using PANSS reducing rate before and after treatment, and EPS was evaluated using the Simpson-Angus Scale. Blood samples were drawn for DNA extraction at the time of patients enrollment and at the end of treatment. Five tag single nucleotide polymorphisms (SNPs) of PTEN gene were genotyped using the SNaPshot method. The association of PTEN genotypes with risperidone efficacy and EPS were using a multivariable logistic regression model. Results Totally 144 cases of patients with schizophrenia were enrolled, including 85 males (59.03%) and 59 females (40.97%). The median age was 30.50 (interquartile range, 17.00) years. The median course of disease was 5.50 (interquartile range, 9.00) years. The median dose of risperidone was 4.00 (interquartile range, 0) mg/d. There were 60 cases effectively treated with risperidone (41.96%), and 30 cases with EPS (20.83%). Multivariable logistic regression analysis showed that none of the five SNP genotypes of PTEN was statistically associated with the efficacy of risperidone (all P>0.05), while the GT+TT genotype of rs17107001 was associated with a decreased risk of EPS (OR=0.110, 95%CI: 0.001-0.886). Conclusion The GT+TT genotype of the PTEN gene rs17107001 in patients with schizophrenia might be negatively associated with risperidone treatment-induced EPS.
高可润, 禹顺英, 李华芳. 精神分裂症患者PTEN基因多态性与利培酮疗效及锥体外系症状的关联研究[J]. 预防医学, 2024, 36(12): 1060-1064.
GAO Kerun, YU Shunying, LI Huafang. Association of phosphatase and tensin homolog gene polymorphisms with the efficacy and extrapyramidal symptoms of risperidone treatment in patients with schizophrenia. Preventive Medicine, 2024, 36(12): 1060-1064.
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